Canonical Allele Identifier: CA52947316
Gene: SLC9A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2287412
ClinVar RCV Id: RCV004133218
dbSNP Id: rs1008911718
gnomAD v2: 2-103149071-G-A
gnomAD v3: 2-102532612-G-A
gnomAD v4: 2-102532612-G-A
MyVariant Identifiers: chr2:g.103149071G>A (hg19) chr2:g.102532612G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.102532612G>A , CM000664.2:g.102532612G>A GRCh38
NC_000002.11:g.103149071G>A , CM000664.1:g.103149071G>A GRCh37
NC_000002.10:g.102515503G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295269.5:c.2321G>A MANE Select ENSP00000295269.4:p.Arg774Gln
ENST00000295269.4:c.2321G>A ENSP00000295269.4:p.Arg774Gln
NM_001011552.3:c.2321G>A NP_001011552.2:p.Arg774Gln
XM_011511158.1:c.2234G>A XP_011509460.1:p.Arg745Gln
NM_001011552.4:c.2321G>A MANE Select NP_001011552.2:p.Arg774Gln
Search 100 bp 5'
Search 100 bp 3'